rs1057517659

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1057517659(C;GGA)

Make rs1057517659(GGA;GGA)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

62705320

Gene	BSCL2, GNG3, HNRNPUL2-BSCL2

is a	snp
is	mentioned by
dbSNP	rs1057517659
dbSNP (classic)	rs1057517659
ClinGen	rs1057517659
ebi	rs1057517659
HLI	rs1057517659
Exac	rs1057517659
Gnomad	rs1057517659
Varsome	rs1057517659
LitVar	rs1057517659
Map	rs1057517659
PheGenI	rs1057517659
Biobank	rs1057517659
1000 genomes	rs1057517659
hgdp	rs1057517659
ensembl	rs1057517659
geneview	rs1057517659
scholar	rs1057517659
google	rs1057517659
pharmgkb	rs1057517659
gwascentral	rs1057517659
openSNP	rs1057517659
23andMe	rs1057517659
SNPshot	rs1057517659
SNPdbe	rs1057517659
MSV3d	rs1057517659
GWAS Ctlg	rs1057517659

Max Magnitude

0

ClinVar
Risk	rs1057517659(GGA;GGA)
Alt	rs1057517659(GGA;GGA)
Reference	Rs1057517659(C;C)
Significance	Pathogenic
Disease	Congenital generalized lipodystrophy type 2
Variation	info
Gene	HNRNPUL2-BSCL2 BSCL2
CLNDBN	Congenital generalized lipodystrophy type 2
Reversed	1
HGVS	NC_000011.9:g.62472792delGinsTCC
CLNSRC
CLNACC	RCV000412545.1,